Linked Data
ClinVar Variation Id:
1572549
ClinVar RCV Id:
RCV002219838
dbSNP Id:
rs1947354000
gnomAD v4:
12-4911867-G-A
MyVariant Identifiers:
chr12:g.5021033G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911867G>A , CM000674.2:g.4911867G>A | GRCh38 |
| NC_000012.11:g.5021033G>A , CM000674.1:g.5021033G>A | GRCh37 |
| NC_000012.10:g.4891294G>A | NCBI36 |
| NG_011815.1:g.6961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.489G>A MANE Select | ENSP00000371985.3:p.Ser163= | |
| ENST00000543874.3:n.105+1395G>A | ||
| ENST00000639306.1:c.327G>A | ENSP00000492506.1:p.Ser109= | |
| ENST00000382545.3:c.489G>A | ENSP00000371985.3:p.Ser163= | |
| ENST00000541095.1:n.105+1395G>A | ||
| ENST00000543874.2:n.96+1395G>A | ||
| NM_000217.2:c.489G>A | NP_000208.2:p.Ser163= | |
| NM_000217.3:c.489G>A MANE Select | NP_000208.2:p.Ser163= |